Document Type : Original Article
Authors
1 Assistant Professor of Pediatrics Rheumatology, Department of Pediatrics, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
2 Assistant Professor of Pediatric Hematology and Oncology, Department of Pediatrics, School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran
Abstract
Introduction: FMF is a genetic disorder characterized by recurrent episodes of fever and inflammation, primarily affecting individuals of Mediterranean origin. The disease is caused by mutations in the MEFV gene, which exhibit variations in their distribution among different populations. The identification of specific mutations is critical for the diagnosis, management, and genetic counseling of FMF patients.
Material and Methods: Blood samples were collected from each participant for genetic analysis. Genomic DNA was extracted from the blood samples using a standard DNA extraction kit. The extracted DNA was then subjected to polymerase chain reaction (PCR) amplification of the MEFV gene exons using specific primers. The PCR products were sequenced using Sanger sequencing technology to identify the presence of mutations in the MEFV gene
Results: The association between the presence of mutations in the MEFV gene and clinical manifestations was further analyzed using chi-square tests. The results indicated a statistically significant association between the M694V mutation and the presence of fever episodes (p<0.001), abdominal pain (p<0.001), and joint involvement (p<0.001). Similarly, the V726A mutation was significantly associated with the presence of fever episodes (p<0.001), abdominal pain (p<0.001), and joint involvement (p<0.001).
Conclusion: our study provides valuable insights into the distribution of MEFV gene mutations in patients with FMF. The identification of specific mutations and their association with clinical manifestations contributes to a better understanding of FMF pathogenesis and can aid in the diagnosis and management of affected individuals. The M694V, V726A, M680I, and E148Q mutations were the most common mutations observed, with the majority of mutations located in exon 10 of the MEFV geneencoding the B30.2 domain of the pyrin protein.
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